Canonical Allele Identifier: CA051877

Gene: TSC2

Linked Data

• dbSNP Id: rs769834772
• ExAC: 16:2135247 G / C
• gnomAD v4: 16-2085246-G-C
• MyVariant Identifiers: chr16:g.2135247G>C (hg19) ; chr16:g.2085246G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2085246G>C , CM000678.2:g.2085246G>C	GRCh38
NC_000016.9:g.2135247G>C , CM000678.1:g.2135247G>C	GRCh37
NC_000016.8:g.2075248G>C	NCBI36
NG_005895.1:g.40941G>C , LRG_487:g.40941G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2935G>C	ENSP00000455997.2:n.*2935G>C
ENST00000642206.2:c.4433G>C	ENSP00000495146.2:p.Arg1478Pro
ENST00000642365.2:c.4583G>C	ENSP00000495459.2:p.Arg1528Pro
ENST00000644417.2:c.*4966G>C	ENSP00000493912.2:n.*4966G>C
ENST00000646464.2:c.*7335G>C	ENSP00000496610.2:n.*7335G>C
ENST00000219476.9:c.4586G>C MANE Select	ENSP00000219476.3:p.Arg1529Pro
ENST00000350773.9:c.4517G>C	ENSP00000344383.4:p.Arg1506Pro
ENST00000401874.7:c.4385G>C	ENSP00000384468.2:p.Arg1462Pro
ENST00000568454.6:c.4418G>C	ENSP00000454487.1:p.Arg1473Pro
ENST00000569110.2:c.809G>C
ENST00000569930.2:n.2468G>C
ENST00000642365.1:c.3240G>C
ENST00000642561.1:c.4457G>C	ENSP00000495099.1:p.Arg1486Pro
ENST00000642728.1:n.768G>C
ENST00000642791.1:n.183G>C
ENST00000642797.1:c.4388G>C	ENSP00000493846.1:p.Arg1463Pro
ENST00000642936.1:c.4454G>C	ENSP00000494514.1:p.Arg1485Pro
ENST00000643088.1:c.4379G>C	ENSP00000494747.1:p.Arg1460Pro
ENST00000643177.1:n.600G>C
ENST00000643426.1:n.2234G>C
ENST00000643946.1:c.4511G>C	ENSP00000495927.1:p.Arg1504Pro
ENST00000644043.1:c.4457G>C	ENSP00000496262.1:p.Arg1486Pro
ENST00000644278.1:n.68G>C
ENST00000644329.1:c.4385G>C	ENSP00000496611.1:p.Arg1462Pro
ENST00000644335.1:c.4382G>C	ENSP00000496317.1:p.Arg1461Pro
ENST00000644399.1:c.4507G>C
ENST00000645024.1:n.2670G>C
ENST00000646388.1:c.4580G>C	ENSP00000495921.1:p.Arg1527Pro
ENST00000646634.1:n.3401G>C
ENST00000646674.1:n.1838G>C
ENST00000647042.1:n.1809G>C
ENST00000647180.1:n.1699G>C
ENST00000219476.7:c.4586G>C	ENSP00000219476.3:p.Arg1529Pro
ENST00000350773.8:c.4517G>C	ENSP00000344383.4:p.Arg1506Pro
ENST00000382538.10:c.4241G>C	ENSP00000371978.6:p.Arg1414Pro
ENST00000401874.6:c.4385G>C	ENSP00000384468.2:p.Arg1462Pro
ENST00000439117.6:c.*3753G>C	ENSP00000406980.2:n.*3753G>C
ENST00000439673.6:c.4277G>C	ENSP00000399232.2:p.Arg1426Pro
ENST00000497886.5:n.2344G>C
ENST00000568454.5:c.4418G>C	ENSP00000454487.1:p.Arg1473Pro
ENST00000569110.1:c.768G>C
ENST00000569930.1:n.1701G>C
NM_000548.3:c.4586G>C , LRG_487t1:c.4586G>C	NP_000539.2:p.Arg1529Pro
NM_001077183.1:c.4385G>C	NP_001070651.1:p.Arg1462Pro
NM_001114382.1:c.4517G>C	NP_001107854.1:p.Arg1506Pro
XM_005255529.3:c.4457G>C	XP_005255586.2:p.Arg1486Pro
XM_005255531.3:c.4388G>C	XP_005255588.2:p.Arg1463Pro
XM_011522636.1:c.4640G>C	XP_011520938.1:p.Arg1547Pro
XM_011522637.1:c.4637G>C	XP_011520939.1:p.Arg1546Pro
XM_011522638.1:c.4529G>C	XP_011520940.1:p.Arg1510Pro
XM_011522639.1:c.4511G>C	XP_011520941.1:p.Arg1504Pro
XM_011522640.1:c.4508G>C	XP_011520942.1:p.Arg1503Pro
XM_011522641.1:c.4277G>C	XP_011520943.1:p.Arg1426Pro
NM_000548.4:c.4586G>C	NP_000539.2:p.Arg1529Pro
NM_001077183.2:c.4385G>C	NP_001070651.1:p.Arg1462Pro
NM_001114382.2:c.4517G>C	NP_001107854.1:p.Arg1506Pro
NM_001318827.1:c.4277G>C	NP_001305756.1:p.Arg1426Pro
NM_001318829.1:c.4241G>C	NP_001305758.1:p.Arg1414Pro
NM_001318831.1:c.3854G>C	NP_001305760.1:p.Arg1285Pro
NM_001318832.1:c.4418G>C	NP_001305761.1:p.Arg1473Pro
NM_001363528.1:c.4388G>C	NP_001350457.1:p.Arg1463Pro
NM_021055.2:c.4457G>C	NP_066399.2:p.Arg1486Pro
XM_005255531.4:c.4388G>C	XP_005255588.2:p.Arg1463Pro
XM_011522636.2:c.4640G>C	XP_011520938.1:p.Arg1547Pro
XM_011522637.2:c.4637G>C	XP_011520939.1:p.Arg1546Pro
XM_011522638.2:c.4802G>C	XP_011520940.2:p.Arg1601Pro
XM_011522639.2:c.4511G>C	XP_011520941.1:p.Arg1504Pro
XM_011522640.2:c.4508G>C	XP_011520942.1:p.Arg1503Pro
XM_017023615.1:c.4583G>C	XP_016879104.1:p.Arg1528Pro
XM_017023616.1:c.4454G>C	XP_016879105.1:p.Arg1485Pro
XM_017023617.1:c.4550G>C	XP_016879106.1:p.Arg1517Pro
XM_017023618.1:c.3296G>C	XP_016879107.1:p.Arg1099Pro
XM_024450413.1:c.4385G>C	XP_024306181.1:p.Arg1462Pro
NM_000548.5:c.4586G>C MANE Select	NP_000539.2:p.Arg1529Pro
NM_001370404.1:c.4454G>C	NP_001357333.1:p.Arg1485Pro
NM_001370405.1:c.4457G>C	NP_001357334.1:p.Arg1486Pro
NM_001077183.3:c.4385G>C	NP_001070651.1:p.Arg1462Pro
NM_001114382.3:c.4517G>C	NP_001107854.1:p.Arg1506Pro
NM_001318827.2:c.4277G>C	NP_001305756.1:p.Arg1426Pro
NM_001318829.2:c.4241G>C	NP_001305758.1:p.Arg1414Pro
NM_001318831.2:c.3854G>C	NP_001305760.1:p.Arg1285Pro
NM_001318832.2:c.4418G>C	NP_001305761.1:p.Arg1473Pro
NM_001363528.2:c.4388G>C	NP_001350457.1:p.Arg1463Pro
NM_021055.3:c.4457G>C	NP_066399.2:p.Arg1486Pro